1. Autosomal dominant inheritance with sex‐limited manifestation: An unusual mode of transmission in humans and animals. Issue 3 (20th December 2022) Authors: Happle, Rudolf; Eyerich, Kilian Journal: American journal of medical genetics Issue: Volume 191:Issue 3(2023) Page Start: 684 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Can Waardenburg syndrome type 2 be explained by epigenetic mosaicism?. Issue 4 (13th January 2021) Authors: Happle, Rudolf Journal: American journal of medical genetics Issue: Volume 185:Issue 4(2021) Page Start: 1304 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Conradi‐Hünermann‐Happle syndrome with minimal signs. Issue 6 (8th November 2021) Authors: Agud‐Dios, Manuel; Ortiz Cabrera, Nelmar Valentina; Noguera‐Morel, Lucero; Hernández‐Martín, Angela; Colmenero, Isabel; Happle, Rudolf; Torrelo, Antonio Journal: Pediatric dermatology Issue: Volume 38:Issue 6(2021) Page Start: 1592 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Edouard Grosshans 1937–2020. (15th February 2021) Authors: Happle, Rudolf; Haneke, Eckart Journal: Journal der Deutschen Dermatologischen Gesellschaft Issue: Volume 19:Number 2(2021) Page Start: 333 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Focal dermal hypoplasia (goltz–gorlin syndrome): A new case with a novel variant in the PORCN gene (c.1250T>C:p.F417S) and unusual spinal anomaly. Issue 7 (21st May 2013) Authors: Garavelli, Livia; Simonte, Graziella; Rosato, Simonetta; Wischmeijer, Anita; Albertini, Enrico; Guareschi, Elisa; Longo, Caterina; Albertini, Giuseppe; Gelmini, Chiara; Greco, Chiara; Errico, Stefania; Savino, Gustavo; Pavanello, Marco; Happle, Rudolf; Unger, Sheila; Superti‐Furga, Andrea; Grzesc... Journal: American journal of medical genetics Issue: Volume 161:Issue 7(2013:Jul.) Page Start: 1750 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Genotype–Phenotype Correlations Emerging from the Identification of Missense Mutations in MBTPS2. Issue 4 (8th March 2013) Authors: Bornholdt, Dorothea; Atkinson, T. Prescott; Bouadjar, Bakar; Catteau, Benoit; Cox, Helen; De, Deepthi; Fischer, Judith; Gunasekera, Chalukya N.; Hadj‐Rabia, Smaïl; Happle, Rudolf; Holder‐Espinasse, Muriel; Kaminski, Elke; König, Arne; Mégarbané, André; Mégarbané, Hala; Neidel, Ulrike; Oeffner, Fr... Journal: Human mutation Issue: Volume 34:Issue 4(2013:Apr.) Page Start: 587 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Goltz syndrome and PORCN: A view from Europe. Issue 1 (22nd January 2016) Authors: Happle, Rudolf Other Names: Fete Mary guestEditor.; Fete Timothy J. guestEditor.; Sutton V. Reid guestEditor. Journal: American journal of medical genetics Issue: Volume 172:Issue 1(2016) Page Start: 21 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Gonosomal versus somatogonadal mosaicism: What is in a name?. Issue 8 (21st May 2019) Authors: Happle, Rudolf Journal: American journal of medical genetics Issue: Volume 179:Issue 8(2019) Page Start: 1678 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Homozygous intronic MITF mutation causes severe Waardenburg syndrome type 2A. (6th September 2018) Authors: Rauschendorf, Marc‐Alexander; Zimmer, Andreas D.; Laut, Astrid; Demmer, Philipp; Rösler, Bernd; Happle, Rudolf; Sartori, Silvina; Fischer, Judith Journal: Pigment cell & melanoma research Issue: Volume 32:Number 1(2019) Page Start: 85 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Melanocytic nevi, genetic engineering, and journalistic disinformation. (18th November 2015) Authors: Happle, Rudolf Journal: Journal der Deutschen Dermatologischen Gesellschaft Issue: Volume 13:Number 12(2015) Page Start: 1278 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗